SWISSVAR

1 protein found in SwissVar (32 variants)

with gene/protein name P17813

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P17813 EGLN_HUMAN telangiectasia, hereditary hemorrhagic, 1 p.Leu8Pro
p.Ala11Asp
p.Val49Phe
p.Gly52Val
p.Cys53Arg
p.Val105Asp
p.Leu107Arg
p.Trp149Cys
p.Ala160Asp
p.Ala175Glu
p.Ile220Thr
p.Leu221Pro
p.Leu221Gln
p.Val238Glu
p.Ile263Ser
p.Ile263Thr
p.Met269Arg
p.Leu306Pro
p.Ala308Asp
p.Cys363Ser
p.Cys394Tyr
p.Cys412Ser
p.Gly413Val
p.Arg437Trp
p.Leu490Ser
p.Val504Met
p.Arg529His
p.Arg529Pro
p.Gly545Asp
p.Leu547Pro
p.Gly603Arg
p.Ala604Asp